ClinVar Miner

Submissions for variant NM_016011.4(MECR):c.-36-3G>C (rs749435497)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000626034 SCV000986728 not provided Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 01/00/1900 by GTR ID Hudson Alpha Clinical Services Lab. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Undiagnosed Diseases Network,NIH RCV000626034 SCV000746649 uncertain significance Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 2018-01-16 criteria provided, single submitter clinical testing Compound heterozygous variants, c.830+2dupT and c.-39G>C, were detected in this individual. The c.830+2dupT variant disrupts the splice donor consensus and has previously been reported as disease causing [PMID 27817865]. The c.-39G>C variant lies in the 5

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.